List of works - Giuliana Giardino

A case of Incontinentia Pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

scientific article published on 02 December 2018

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model

scientific article published on January 2013

Altered signaling through IL-12 receptor in children with very high serum IgE levels.

scientific article published on 21 July 2010

B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.

scientific article published on 22 August 2015

Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.

scientific article

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

scientific article published on 23 April 2019

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

scientific article

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

article

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus

scientific article

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

scholarly article by Lorenzo Loffredo published in April 2013

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

scientific article published on 21 September 2017

FOXN1 in organ development and human diseases

scientific article published on 17 January 2014

From murine to human nude/SCID: the thymus, T-cell development and the missing link

scientific article published on 05 March 2012

Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.

scientific article published on 18 December 2013

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

scientific article published on October 2012

Hyper IgM syndrome presenting as chronic suppurative lung disease

scientific article

Immunodeficiency diagnosis: a Mondrian or Pollock scenario? ⬇️

scientific article published on November 24, 2011

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

scientific article published on 12 December 2013

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

scientific article

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome

scientific article published on 17 August 2011

NADPH Oxidase Deficiency: A Multisystem Approach

scientific article published on 21 December 2017

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

scientific article published on 24 August 2013

Novel STAT1 gain-of-function mutation and suppurative infections.

scientific article

Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause

scientific article published on 29 June 2013

Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab.

scientific article published on 11 August 2017

Severe combined immunodeficiences: new and old scenarios

scientific article published on February 2012

Severe combined immunodeficiency--an update.

scientific article published on 31 July 2015

The R156H variation in IL-12Rβ1 is not a mutation.

scientific article published on 14 February 2013

Unbalanced Immune System: Immunodeficiencies and Autoimmunity

scientific article

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

scientific article published on 16 March 2015

List of works by Giuliana Giardino

A case of Incontinentia Pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model

Altered signaling through IL-12 receptor in children with very high serum IgE levels.

B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.

Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

FOXN1 in organ development and human diseases

From murine to human nude/SCID: the thymus, T-cell development and the missing link

Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

Hyper IgM syndrome presenting as chronic suppurative lung disease

Immunodeficiency diagnosis: a Mondrian or Pollock scenario? ⬇️

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome

NADPH Oxidase Deficiency: A Multisystem Approach

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

Novel STAT1 gain-of-function mutation and suppurative infections.

Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause

Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab.

Severe combined immunodeficiences: new and old scenarios

Severe combined immunodeficiency--an update.

The R156H variation in IL-12Rβ1 is not a mutation.

Unbalanced Immune System: Immunodeficiencies and Autoimmunity

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.